Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

We report the identification of a de novo GABRA1 (R214C) variant in a child with epileptic encephalopathy (EE), describe its functional characterization and pathophysiology, and evaluate its potential therapeutic options. The GABRA1 (R214C) variant was identified using whole exome sequencing, and th...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Brain
Main Authors: Bai, Yun-Fei, Chiu, Michelle, Chan, Elizabeth S., Axerio-Cilies, Peter, Lu, Jie, Huh, Linda, Connolly, Mary B., Guella, Ilaria, Farrer, Matthew J., Xu, Zhi-Qing David, Liu, Lidong, Demos, Michelle, Wang, Yu Tian
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2019
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6842544/
https://ncbi.nlm.nih.gov/pubmed/31707987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-019-0513-9
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki